Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics o...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Lin, Bangbang, Chen, Yanru, Zheng, Zhenzhu, Fu, Qingliu, Lin, Weihua, Zhang, Weifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642906/
https://www.ncbi.nlm.nih.gov/pubmed/34863234
http://dx.doi.org/10.1186/s13023-021-02126-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642906/
https://www.ncbi.nlm.nih.gov/pubmed/34863234
http://dx.doi.org/10.1186/s13023-021-02126-3

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